AU2020204908A1 - Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation - Google Patents

Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation Download PDF

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Publication number
AU2020204908A1
AU2020204908A1 AU2020204908A AU2020204908A AU2020204908A1 AU 2020204908 A1 AU2020204908 A1 AU 2020204908A1 AU 2020204908 A AU2020204908 A AU 2020204908A AU 2020204908 A AU2020204908 A AU 2020204908A AU 2020204908 A1 AU2020204908 A1 AU 2020204908A1
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Australia
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region
umi
target
genomic dna
sequence
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Abandoned
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AU2020204908A
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English (en)
Inventor
Peng Dai
Ruojia WU
David Zhang
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William Marsh Rice University
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William Marsh Rice University
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    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/686Polymerase chain reaction [PCR]
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    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6851Quantitative amplification
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    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6853Nucleic acid amplification reactions using modified primers or templates
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6858Allele-specific amplification
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
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    • C12Q2537/00Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/143Multiplexing, i.e. use of multiple primers or probes in a single reaction, usually for simultaneously analyse of multiple analysis
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2563/00Nucleic acid detection characterized by the use of physical, structural and functional properties
    • C12Q2563/179Nucleic acid detection characterized by the use of physical, structural and functional properties the label being a nucleic acid

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
AU2020204908A 2019-01-04 2020-01-02 Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation Abandoned AU2020204908A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962788375P 2019-01-04 2019-01-04
US62/788,375 2019-01-04
PCT/US2020/012089 WO2020142631A2 (en) 2019-01-04 2020-01-02 Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation

Publications (1)

Publication Number Publication Date
AU2020204908A1 true AU2020204908A1 (en) 2021-07-29

Family

ID=71406971

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2020204908A Abandoned AU2020204908A1 (en) 2019-01-04 2020-01-02 Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation

Country Status (8)

Country Link
US (1) US20220098642A1 (ko)
EP (1) EP3906320A4 (ko)
JP (1) JP2022516307A (ko)
KR (1) KR20210112350A (ko)
CN (1) CN113710815A (ko)
AU (1) AU2020204908A1 (ko)
CA (1) CA3125458A1 (ko)
WO (1) WO2020142631A2 (ko)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2021263433A1 (en) * 2020-05-01 2022-12-01 William Marsh Rice University Quantitative blocker displacement amplification (QBDA) sequencing for calibration-free and multiplexed variant allele frequency quantitation
WO2023077121A1 (en) * 2021-11-01 2023-05-04 Nuprobe Usa, Inc. Rna quantitative amplicon sequencing for gene expression quantitation
CN117437978A (zh) * 2023-12-12 2024-01-23 北京旌准医疗科技有限公司 一种二代测序数据的低频基因突变分析方法、装置及其应用
CN117497056B (zh) * 2024-01-03 2024-04-23 广州迈景基因医学科技有限公司 一种无对照hrd检测方法、系统及装置

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007101075A2 (en) * 2006-02-22 2007-09-07 Applera Corporation Double-ligation method for haplotype and large-scale polymorphism detection
MX2010010600A (es) * 2008-03-28 2011-03-30 Pacific Biosciences California Inc Composiciones y metodos para secuenciacion de acidos nucleicos.
DK2729580T3 (en) * 2011-07-08 2015-12-14 Keygene Nv SEQUENCE BASED genotyping BASED ON OLIGONUKLEOTIDLIGERINGSASSAYS
CN103060924B (zh) * 2011-10-18 2016-04-20 深圳华大基因科技有限公司 微量核酸样本的文库制备方法及其应用
EP2971160B1 (en) * 2013-03-15 2018-05-30 Bio-Rad Laboratories, Inc. Digital assays for mutation detection
WO2016181128A1 (en) * 2015-05-11 2016-11-17 Genefirst Ltd Methods, compositions, and kits for preparing sequencing library
WO2018162538A1 (en) * 2017-03-08 2018-09-13 F. Hoffmann-La Roche Ag Primer extension target enrichment and improvements thereto including simultaneous enrichment of dna and rna

Also Published As

Publication number Publication date
JP2022516307A (ja) 2022-02-25
KR20210112350A (ko) 2021-09-14
WO2020142631A2 (en) 2020-07-09
EP3906320A4 (en) 2022-10-19
US20220098642A1 (en) 2022-03-31
EP3906320A2 (en) 2021-11-10
CN113710815A (zh) 2021-11-26
CA3125458A1 (en) 2020-07-09
WO2020142631A3 (en) 2021-05-27

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MK1 Application lapsed section 142(2)(a) - no request for examination in relevant period